liu.seSearch for publications in DiVA
Change search
ReferencesLink to record
Permanent link

Direct link
Characterization of the genetic basis in two cases of abetalipoproteinemia reveals two novel mutations
Linköping University, Department of Physics, Chemistry and Biology.
2010 (English)Independent thesis Advanced level (degree of Master (Two Years)), 40 credits / 60 HE creditsStudent thesis
Abstract [en]

BACKGROUND: Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by mutations in the gene coding for microsomal triglyceride transfer protein (MTTP).

AIM: To characterize the genetic basis of ABL in two unrelated patients.

RESULTS: In the first patient, the substitution c.1911C>T in exon 12 of the MTTP gene, resulting in the protein substitution p.P552L, was discovered using mutation screening. The parents are heterozygous and the proband is a homozygous carrier of this substitution. Using restriction fragment length polymorphism (RFLP), 100 control subjects were analyzed and none carried the substitution indicating that it is a novel MTTP mutation. Sequencing of the other ABL patient showed that the proband carried a homozygous single base insertion, at position  c.2342IVS16+2-3insT, located at the donor splice-site of intron 16 resulting in skipping of exon 16 and truncation of the protein. The proband's mother is heterozygous for the insertion while the father does not carry the insertion. Multiplex ligation-dependent probe amplification (MLPA) did not identify any deletion encompassing exon 16 in the proband, father or mother. Nonpaternity was excluded using polymorphic markers from several chromosomes. Haplotype analysis using markers spanning chromosome 4 revealed  heterodisomy (two homologous chromosomes) of 4p and the distal part of 4q, and isodisomy (duplication of one chromosome) of 4q12-4q26.

CONCLUSION: These data show that the cause of ABL in one of the patients is a missense mutation, p.P552L, while the cause of ABL in the other patient is due to uniparental disomy, probably resulting from non-disjunstion in meiosis I.

Place, publisher, year, edition, pages
2010. , 23 p.
Keyword [en]
Abetalipoproteinemia, DNA sequencing, multiplex ligation-dependent probe amplification, microsomal triglyceride transfer protein, mutation screening, paternity testing, restriction fragment length polymorphism, polymorphic markers
National Category
Natural Sciences
URN: urn:nbn:se:liu:diva-58620ISRN: LITH-IFM-A-EX--10/2287--SEOAI: diva2:344338
Available from: 2010-09-20 Created: 2010-08-18 Last updated: 2010-09-20Bibliographically approved

Open Access in DiVA

fulltext(1049 kB)214 downloads
File information
File name FULLTEXT01.pdfFile size 1049 kBChecksum SHA-512
Type fulltextMimetype application/pdf

Search in DiVA

By author/editor
Gunnar, Erika
By organisation
Department of Physics, Chemistry and Biology
Natural Sciences

Search outside of DiVA

GoogleGoogle Scholar
Total: 214 downloads
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Total: 94 hits
ReferencesLink to record
Permanent link

Direct link